Information regarding DNA repair in autism is limited to a few studies, which have reported inconsistent results. Therefore, we designed a study to determine whether DNA repair efficiency is altered in autism and to investigate whether the H4 ligand JNJ7777120 can enhance DNA repair efficiency in BTBR T(+)tf/J (BTBR) mice ; we also attempted to elucidate the mechanism(s) underlying this amelioration. Evaluation of DNA damage using the comet assay on bone marrow cells showed increased levels of DNA damage in BTBR mice compared with age-matched control C57BL/6J mice. Conversely, BTBR animals pretreated with 20mg/kg JNJ7777120 for five days exhibited significant decreases in DNA damage compared with that of control BTBR mice. Our results also indicated higher sensitivity of BTBR mice exposed to gamma rays to DNA damage generation. A marked difference was observed between BTBR and C57BL/6J mice at different sampling times after irradiation, with BTBR mice showing a higher percentage of DNA damage and slower repair rate than that of C57BL/6J mice. JNJ7777120 led to enhanced repair of the DNA damage induced by radiation when administered to BTBR mice five days prior to radiation. Additionally, oxidative stress in BTBR mice was significantly elevated with a reduced GSH/GSSG ratio ; significant amelioration was subsequently observed in JNJ7777120-pretreated BTBR mice. Furthermore, repetitive behaviors were also attenuated in BTBR mice by JNJ7777120 treatment without altering locomotor activity. Our results suggest that JNJ7777120 can be developed for use as a therapeutic agent to enhance DNA repair efficiency in autism spectrum disorder.

Introduction : Intra-articular ganglion cysts of the knee joint are rare and mostly incidental findings in magnetic resonance imaging (MRI) or arthroscopy. Posterior cruciate ligament (PCL) ganglion cyst in a child is an extremely rare finding, and to the best of our knowledge, only one case has been described in the literature. We report a case of a large intra-articular ganglion cyst of the knee arising from the PCL in an autistic child. Case Presentation : An 8-year-old Caucasian boy affected by autism presented with nontraumatic knee pain. His parents, observing child’s gait, reported recurrent limp while walking, sometimes accompanied by knee locking. Clinical examination was hindered by the noncompliance of the patient and revealed painful limitation of terminal flexion and extension. MRI scans showed a large ganglion cyst located in the intercondylar notch. Arthroscopy confirmed an intrasubstance PCL ganglion cyst, extending both anteriorly and posteriorly. Complete excision of the cyst was performed, with full recovery of the child and no recurrence. Conclusion : In pediatric patients with pain or limited knee range of motion, physicians should consider the possibility of a ganglion cyst arising from the PCL, despite its rarity. Arthroscopic excision is a safe and effective procedure that guarantees a complete recovery of the patient with the lowest rate of recurrence.

Myhre syndrome (MS) is a connective tissue disorder with multisystem involvement with or without intellectual disability. In most cases SMAD4 mutations are reported. To date, 55 individuals have been molecularly confirmed. Autism has been proposed among associate clinical features of MS but no standardized diagnosis was available in previous cases. We report a case of a 25-year-old man with a pathogenic heterozygous SMAD4 missense mutation affecting residue Arg(496) (SMAD4:p.Arg496Cys). Clinical findings are consistent with MS, commorbid with affective disorder and High Functioning Autism Spectrum Disorder confirmed by a standardized assessment procedure. The thorough clinical assessment of cases with syndromes such as MS can extend our knowledge on both the phenotypic characteristics of the syndrome and the genetic basis of autism.

BACKGROUND : Despite its importance within behavioural intervention, it remains unclear how best to achieve high procedural fidelity. This paper reviewed studies on improving procedural fidelity of behavioural interventions for individuals with intellectual and developmental disabilities (IDD). METHOD : A systematic literature search was conducted, which identified 20 studies meeting inclusion criteria. Data were extracted on study design, participant characteristics, intervention, target behaviours, effect sizes, maintenance, generalization and social validity. A quality rating was also applied. RESULTS : A total of 100 participants took part in the included studies. Most participants were teachers working with children in school settings. There was a significant positive correlation between level of procedural fidelity and client outcomes. Feedback was the most commonly employed intervention to improve procedural fidelity. CONCLUSIONS : More research should be conducted in environments with high levels of variability such as community homes to determine how to reach and maintain high levels of procedural fidelity.

Rett syndrome (RTT), a rare neurodevelopmental disorder caused by mutations in the MECP2 gene, is typified by profound cognitive impairment and severe language impairment, rendering it very difficult to accurately measure auditory processing capabilities behaviorally in this population. Here we leverage the mismatch negativity (MMN) component of the event-related potential to measure the ability of RTT patients to decode and store occasional duration deviations in a stream of auditory stimuli. Sensory memory for duration, crucial for speech comprehension, has not been studied in RTT.High-density electroencephalography was successfully recorded in 18 females with RTT and 27 age-matched typically developing (TD) controls (aged 6-22 years). Data from seven RTT and three TD participants were excluded for excessive noise. Stimuli were 1 kHz tones with a standard duration of 100 ms and deviant duration of 180 ms. To assess the sustainability of sensory memory, stimulus presentation rate was varied with stimulus onset asynchronies (SOAs) of 450, 900, and 1800 ms. MMNs with maximum negativity over fronto-central scalp and a latency of 220-230 ms were clearly evident for each presentation rate in the TD group, but only for the shortest SOA in the RTT group. Repeated-measures ANOVA revealed a significant group by SOA interaction. MMN amplitude correlated with age in the TD group only. MMN amplitude was not correlated with the Rett Syndrome Severity Scale. This study indicates that while RTT patients can decode deviations in auditory duration, the span of this sensory memory system is severely foreshortened, with likely implications for speech decoding abilities.

AIMS : Children with autism spectrum disorder (ASD) are less likely to participate in physical activity than their age related peers, and it has been suggested that physiotherapists (PT) could potentially facilitate their participation. Currently, no research has examined PTs’ potential role in enhancing physical activity (PA) participation. The purpose of this qualitative study was to examine PTs experiences and perspectives of working with children with ASD, and to explore potential directions for PTs to potentially increase PA. METHODS : Ten pediatric PTs in Canada were interviewed, and data were analyzed using thematic analysis. RESULTS : Three themes were identified : the role of PT, perceived lack of expertise, confidence and training, and structural and systemic barriers. The accounts highlight the social and institutional complexity and constraints in PTs potential promotion of PA for children with ASD. Participants supported a primarily consultative role whereby PTs could educate and partner with parents, teachers, and community service providers to enhance gross motor development and individualize PA needs. CONCLUSIONS : These findings indicate how PTs might be involved in enhancing PA among children with ASD.

This study aims to translate the Brief Autism Mealtime Behaviour Inventory (BAMBI) questionnaire to Brazilian Portuguese, in order to provide a tool to be used in clinic routine that encourages the evaluation of the feeding behaviour of patients with Autism Spectrum Disorder (ASD). The final sample contained 410 participants, the mean age was 9.58 +/- 1.2 and the majority of participants were male (95%). Validation of this questionnaire allows a structured evaluation for this population to be integrated not only into the clinical routine but also to help parent’s interventions about the eating problems and possible consequences. This is of utmost importance, since parents are reporting the nutritional aspects more often, and studies indicate that up to 80% of ASD patients may present feeding behavior problems.

Sleep disturbances are frequent and varied in autism spectrum disorder (ASD). Growing evidence suggests that sleep problems in children with ASD are driven by their clinical characteristics and psychiatric comorbidities. Therefore, the wide range of reported sleep disturbances reflects the marked heterogeneity of clinical pictures in ASD. Whether sleep disturbances and their various forms may, in turn, account for at least part of the phenotypical variability of ASD is a crucial question discussed in this review. We first outline studies both validating and challenging a bidirectional theoretical framework for sleep disorders in children with ASD. We then propose to extend this model by including cognition and sensory processing as key factors in the vicious circle linking sleep disorders and autistic symptoms. WHAT THIS PAPER ADDS : There is a bidirectional interplay between autism symptoms and sleep disturbances. Sleep influence on daytime cognitive and sensory skills should be further investigated.

The success of behavior-analytic procedures to teach language to individuals with autism spectrum disorder (ASD) has been well established in the literature. Nevertheless, some individuals may not learn any receptive or expressive language following extensive teaching efforts. We examined the effects of two reinforcement contingencies, functional and arbitrary, on increasing the level of auditory-visual conditional discriminations in children with ASD with a history of having difficulty learning discriminations. We evaluated the effects of the reinforcement contingencies by comparing the number of trials needed to establish discriminations in an adapted alternating treatment design. We found that five out of eight participants showed more rapid acquisition and demonstrated discrimination between more items in the functional reinforcement condition. The remaining three participants did not exhibit any discrimination in either condition within the allotted 500 trials/20 days. These findings suggest that using functional reinforcement procedures may be a helpful alternative for individuals who do not learn discriminations through traditional procedures.

BACKGROUND AND AIMS : High quality student-teacher relationships (STR) are important for children’s academic and social development. We explore how individual child language domains (semantics, syntax, pragmatics), teacher years of experience, and classroom placement (general or special education) relate to STR quality for children with autism spectrum disorder (ASD) across the school year. METHODS AND PROCEDURES : 191 children with ASD (Mage=5.6 years) completed a standardized language assessment and their teachers reported on STR quality twice during the school year. OUTCOME AND RESULTS : Pragmatics, but not semantics or syntax, had a direct effect on student-teacher closeness. The association between semantics and closeness was moderated by classroom type ; for students with low semantics, teacher-reported closeness was lower in general versus special education. Teachers in special versus general education classrooms reported closer relationships. More experienced teachers reported closer and less conflictual relationships. None of the three language domains were associated with student-teacher conflict. CONCLUSIONS AND IMPLICATIONS : Pragmatic and semantic language skills were associated with closer relationships. Language-focused therapies may be effective in carrying over to impact STR quality. Given the stability in relationship quality, targeted interventions should be delivered to teachers at the beginning of the school year to support positive relationship development.

BACKGROUND : Down syndrome (DS) is associated with increased rates of autism spectrum disorder (ASD), characterized by social-communicative impairments (SOC-COM) and repetitive behaviors and interests (RBI). However, little is known about the ASD symptom presentation in children with DS + ASD. AIMS : The current study sought to describe parent-report of SOC-COM and RBI symptoms on the Autism Diagnostic Interview -Revised (ADI-R) in children with DS (n = 22), DS + ASD (n = 11), and ASD (n = 66). METHOD : SOC-COM and RBI scores from the ADI-R were compared across the groups whose autism status was ascertained using the Autism Diagnostic Observation Schedule. RESULTS : Differences in SOC-COM and RBI symptom severity was observed. The general pattern of findings was ASD > DS+ASD > DS. Dissimilar ASD symptom profiles were observed across groups. In ASD, SOC-COM scores were higher than RBI scores ; in DS + ASD, similar SOC-COM and RBI scores were observed. Lastly, SOC-COM impairments were highly related to verbal cognition in youth with DS + ASD but not in those with DS or ASD. CONCLUSIONS AND IMPLICATIONS : These findings suggest that children with DS + ASD have a distinct profile of ASD symptoms that differs from peers with either disorder in isolation. Thus, care should be taken in evaluating and designing treatments for this group.

The Autism impact measure (AIM) is a caregiver-reported questionnaire assessing autism symptom frequency and impact in children, previously shown to have good test-retest reliability, convergent validity and structural validity. This study extended previous work by exploring the AIM’s ability to discriminate between ’known-groups’ of children, and estimating thresholds for clinically important responses. Data were collected online and electronically on computer and mobile devices ; hence, it was also possible to confirm other psychometric properties of the AIM in this format. This study provides confirmatory and additional psychometric validation of the AIM. The AIM offers a valid, quick and inexpensive method for caregivers to report core symptoms of autism spectrum disorder (ASD) including communication deficits, difficulties with social interactions and repetitive behaviors.

Many studies have reported abnormal gut microbiota in individuals with Autism Spectrum Disorders (ASD), suggesting a link between gut microbiome and autism-like behaviors. Modifying the gut microbiome is a potential route to improve gastrointestinal (GI) and behavioral symptoms in children with ASD, and fecal microbiota transplant could transform the dysbiotic gut microbiome toward a healthy one by delivering a large number of commensal microbes from a healthy donor. We previously performed an open-label trial of Microbiota Transfer Therapy (MTT) that combined antibiotics, a bowel cleanse, a stomach-acid suppressant, and fecal microbiota transplant, and observed significant improvements in GI symptoms, autism-related symptoms, and gut microbiota. Here, we report on a follow-up with the same 18 participants two years after treatment was completed. Notably, most improvements in GI symptoms were maintained, and autism-related symptoms improved even more after the end of treatment. Important changes in gut microbiota at the end of treatment remained at follow-up, including significant increases in bacterial diversity and relative abundances of Bifidobacteria and Prevotella. Our observations demonstrate the long-term safety and efficacy of MTT as a potential therapy to treat children with ASD who have GI problems, and warrant a double-blind, placebo-controlled trial in the future.

Little is known about the alliance between therapists and children with autism spectrum disorder who are receiving psychological therapies in outpatient treatment settings. This study examined the therapeutic alliance in children with autism spectrum disorder and clinical anxiety, who were receiving cognitive behavioral therapy in a randomized, controlled trial. The Therapeutic Alliance Scale for Children was administered to a sample of children and youth with autism spectrum disorder and anxiety ( N = 64 ; aged 7-14) as well as to their parents and therapists. A comparison sample of typically developing youth with clinical anxiety ( N = 36 ; aged 5-12) was included. The child-therapist alliance was more positive among typically developing children than among children with autism spectrum disorder ; correspondingly, the parent-therapist alliance was also more positive among parents of typically developing children. Therapist reports of positive child-therapist alliance predicted post-treatment reductions in anxiety among children with autism spectrum disorder, although child reports of this alliance did not. Parent reports of positive parent-therapist alliance also predicted post-treatment reductions in the child’s anxiety in the group with autism spectrum disorder. A strong therapeutic alliance appears to be associated with better treatment outcomes in children with autism spectrum disorder receiving cognitive behavioral therapy, although a thoughtful and diagnostically sensitive approach is advisable to promote a positive alliance with children with autism spectrum disorder.

OBJECTIVES : To describe the validation of a new 27-item ageism scale for dental students in Greece. BACKGROUND : A new ageism scale for dental students has been developed by American and European Gerodontology educators and was preliminary validated in the United States. METHODS : The scale was translated into Greek and administered to 8th- and 10th-semester dental students in Athens. Principal components analysis was used to explore the internal structure of the measure ; internal consistency reliability was assessed using Cronbach’s alpha coefficient ; corrected item-total correlations were calculated to decide which low contributing items should be removed from the scale ; and discriminant validity was tested investigating variation in relation to demographic and educational factors. RESULTS : A total of 152 students responded to the questionnaire. The Principal component analysis offered a 15-item scale distributed into four factors that accounted for 56.4%, of the total variance, produced stronger factor loadings, a comparable amount of overall component variance and logical sets of components. The four factors produced were values/ethics about older people (four items, alpha = 0.71), patient compliance (four items, alpha = 0.72), barriers to dental care (four items, alpha = 0.57) and dentist-older patient interaction (three items, alpha = 0.64). Discriminant validity revealed statistically significant differences in factors and items related to semester of studies, gender and family’s permanent residence. CONCLUSION : The preliminary validation of the Greek version of the ageing scale for dental students revealed a 15-item questionnaire that demonstrated acceptable validity and reliability and could be further tested in larger samples.

Children with autism spectrum disorder (ASD) have trouble with non-verbal communication, which is strongly associated with poor social function.(1) There are few evidence-based interventions for children with ASD, so tutors find it difficult to teach non-verbal communication skills. This article is protected by copyright. All rights reserved.

Determining a patient’s dental age is essential from the dental standpoint but can also have connotations of a forensic, anthropological and medicolegal nature. In this study, we assessed the correspondence between dental age and chronological age in a group of 50 children with autism spectrum disorders, with a chronological age range of 3-17 years. The dental age was calculated using panoramic radiography images, applying linear regression models derived from the classical indices by Nolla and Demirjian. In 2 of every 3 boys, the dental age was ahead of the chronological age, and in almost 1 of every 3 cases, the difference was >/= 12 months. In the girls, conversely, we found no significant differences between dental age and chronological age.

The Fragile X mental retardation protein (FMRP) is involved in many cellular processes and it regulates synaptic and network development in neurons. Its absence is known to lead to intellectual disability, with a wide range of comorbidities including autism. Over the past decades, FMRP research focused on abnormalities both in glutamatergic and GABAergic signaling, and an altered balance between excitation and inhibition has been hypothesized to underlie the clinical consequences of absence of the protein. Using Fmrp knockout mice, we studied an in vitro model of cortical microcircuitry and observed that the loss of FMRP largely affected the electrophysiological correlates of network development and maturation but caused less alterations in single-cell phenotypes. The loss of FMRP also caused a structural increase in the number of excitatory synaptic terminals. Using a mathematical model, we demonstrated that the combination of an increased excitation and reduced inhibition describes best our experimental observations during the ex vivo formation of the network connections.

PURPOSE : The purpose of this study was to explore the role of gender in career exploration and job-seeking experiences among adults with autism. METHODS : The study drew on qualitative content analysis of 714 randomly sampled posts (357 by women and 357 by men) from an online autism forum. The stages of considering work : contemplation, preparation, and action informed the analysis. RESULTS : The analysis showed several similarities and some differences. In the initial stage of deciding whether or not to seek employment, low self-esteem, rejecting paid employment as a life goal, fear of losing disability benefits and parental overprotection influenced both genders. Gender role and family responsibilities further constrained women. In the stage of defining career goals, common issues included the need for autism-tailored career-matching tools and sector-specific guidance, and lack of self-employment support. Women were further limited by assumptions about stereotypical jobs to which they should aspire. In the job search stage, overly specific job descriptions, a lack of social networks, and transportation barriers influenced both genders. While women talked more frequently about unfavorable experiences in employment support services, men recounted more difficulties with job applications and interviews. CONCLUSION : Gender-sensitive vocational approaches are needed to assist adults with autism throughout the career decision-making process. Implications for rehabilitation Vocational psychologists, clinicians, and policymakers should help to overcome the psychological, social, and financial reasons that may lead adults with autism to decide not to pursue paid work. To assist in setting career goals, vocational specialists need to be aware of the challenges facing adults with autism across various employment sectors and provide them with tailored career-matching tests and tools. Vocational rehabilitation specialists and educators should encourage women with autism into non-traditional areas of employment. Vocational rehabilitation services should empower both males and females with autism by encouraging negotiation and self-advocacy, promoting autism-focused programs, and reducing paperwork and processing time. Vocational rehabilitation specialists should tailor their practice to the gender-specific needs of adults with autism throughout their career decision-making process.

20. Neuhaus E, Webb SJ, Bernier RA. Linking social motivation with social skill : The role of emotion dysregulation in autism spectrum disorder. Development and psychopathology. 2019 : 1-13.

Autism spectrum disorder (ASD) is associated with pervasive social deficits as well as marked emotion dysregulation across the life span. Decreased social motivation accounts in part for social difficulties, but factors moderating its influence are not fully understood. In this paper, we (a) characterize social and emotional functioning among children and adolescents with ASD, (b) explore contributions of social motivation and emotion dysregulation to social skill, and (c) consider biological sex and intellectual functioning as moderators of these associations. In a sample of 2,079 children and adolescents with ASD from the Simons Simplex Collection, we document direct effects of social motivation, internalizing symptoms, aggression, attention problems, irritability, and self-injurious behavior on children’s social skills. Furthermore, dysregulation in several domains moderated the association between social motivation and social skill, suggesting a blunting effect on social motivation in the context of emotional difficulties. Moreover, when considering only individuals with intellectual skills in the average range or higher, biological sex further moderated these associations. Findings add to our understanding of social-emotional processes in ASD, suggest emotion dysregulation as a target of intervention in the service of social skill improvements, and build on efforts to understand sources of individual difference that contribute to heterogeneity among individuals with ASD.

Food allergies are frequently reported to co-occur with autism spectrum disorder (ASD), but the prevalence of this co-occurrence remains uncertain. In the present study, we examined parent-reported prevalence of co-occurring food allergy and ASD in a nationally representative sample of US children ages 2-17 in the National Health Interview Survey, study years 2011-2015. All analyses used survey weights to account for the complex sampling design. In the analytic sample of 53,365 children ages 2-17, there were 905 children with parent-reported ASD (prevalence of 1.7%) and 2,977 children with parent-reported food allergy (prevalence of 5.6%). Parent-reported food allergies were nearly 2.5 times more common in children with ASD (prevalence of 13.1%) than in children without ASD (5.4%). These results indicate that food allergies commonly co-occur with ASD, which may have etiological implications. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Food allergies are frequently reported to occur with autism spectrum disorder (ASD), but the prevalence of this co-occurrence remains uncertain. In the present study, we examined parent-reported prevalence of co-occurring food allergy and ASD in a nationally representative sample of United States children. In the sample of 53,365 children ages 2-17, 1.7% of children were reported to have ASD, and 5.6% were reported to have food allergies. Parent-reported food allergies were nearly 2.5 times more common in children with ASD (13.1%) than in children without ASD (5.4%).